, the University of Zurich, and the Health 2030 Genome Center in Geneva. The molecular analysis was carried out at PHRT’s Swiss Multi-Omics Center in Zurich.Until now, physicians have relied mainly on DNA sequencing for genetic diagnosis of MMA. However, this approach has led to repeated instances of the correct diagnosis being overlooked, reports Sean Froese, research group leader at the University Children’s Hospital Zurich and co-senior author of the study.
By opting to expand significantly their molecular investigation, the researchers considered not only the disease’s genetic cause but also its consequences in terms of RNA, proteins, and protein function. This enabled the consortium, as part of this study, to develop a diagnostic strategy that correctly diagnosed 84 percent of the patients examined.
Future investigations will show if such an approach will have the same effect in animal models and can result in a feasible therapy for patients. In addition, the researchers launched a new national interdisciplinary and interinstitutional project called SwissPedHealth, co-funded by PHRT and the Swiss Personalized Health Network , to increase the diagnostic effectiveness further and to extend the multi-omics approach to other genetic diseases.
Reference: “Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency” by Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G. A. Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J.